Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia

Chuan Zhang; Shengju Hao; Qinghua Zhang; Bingbo Zhou; Furong Liu; Xiaojuan Lin; Yousheng Yan

doi:10.3760/cma.j.issn.1003-9406.2019.06.022

Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia

Chuan Zhang, Shengju Hao, Qinghua Zhang, Bingbo Zhou, Furong Liu, Xiaojuan Lin, Yousheng Yan

Research output: Contribution to journal › Article › peer-review

Abstract

Objective: To identify mutation of the PAX6 gene in a case with congenital aniridia. Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. Results: The proband was found to harbor a heterozygous c. 239T>A (p. Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.

Original language	English
Pages (from-to)	616-619
Number of pages	4
Journal	Chinese Journal of Medical Genetics
Volume	36
Issue number	6
DOIs	https://doi.org/10.3760/cma.j.issn.1003-9406.2019.06.022
State	Published - Jun 2019
Externally published	Yes

Keywords

Congenital aniridia
Mutation
PAX6 gene

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10.3760/cma.j.issn.1003-9406.2019.06.022

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title = "Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia",

abstract = "Objective: To identify mutation of the PAX6 gene in a case with congenital aniridia. Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. Results: The proband was found to harbor a heterozygous c. 239T>A (p. Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.",

keywords = "Congenital aniridia, Mutation, PAX6 gene",

author = "Chuan Zhang and Shengju Hao and Qinghua Zhang and Bingbo Zhou and Furong Liu and Xiaojuan Lin and Yousheng Yan",

year = "2019",

month = jun,

doi = "10.3760/cma.j.issn.1003-9406.2019.06.022",

language = "英语",

volume = "36",

pages = "616--619",

journal = "Chinese Journal of Medical Genetics",

issn = "1003-9406",

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}

TY - JOUR

T1 - Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia

AU - Zhang, Chuan

AU - Hao, Shengju

AU - Zhang, Qinghua

AU - Zhou, Bingbo

AU - Liu, Furong

AU - Lin, Xiaojuan

AU - Yan, Yousheng

PY - 2019/6

Y1 - 2019/6

N2 - Objective: To identify mutation of the PAX6 gene in a case with congenital aniridia. Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. Results: The proband was found to harbor a heterozygous c. 239T>A (p. Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.

AB - Objective: To identify mutation of the PAX6 gene in a case with congenital aniridia. Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. Results: The proband was found to harbor a heterozygous c. 239T>A (p. Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.

KW - Congenital aniridia

KW - Mutation

KW - PAX6 gene

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U2 - 10.3760/cma.j.issn.1003-9406.2019.06.022

DO - 10.3760/cma.j.issn.1003-9406.2019.06.022

M3 - 文章

C2 - 31055820

AN - SCOPUS:85065655230

SN - 1003-9406

VL - 36

SP - 616

EP - 619

JO - Chinese Journal of Medical Genetics

JF - Chinese Journal of Medical Genetics

IS - 6

ER -

Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia

Abstract

Keywords

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